Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000116839 Individual ID 00144061 Associated disease - Phenotype details Age 26; visual acuity R=20/32, L=20/40; Mild pallor optic disc, vessels near normal caliber, preserved RPE posterior pole with mild epiretinal membrane, RPE changes in macula with 3 intraretinal crystals. Right eye: (mid)periphery atrophic with bone-spicules. Diagnosis/Initial retinitis pigmentosa Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset - Protein - Owner name Rob W.J. Collin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-11-28 22:45:32 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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